Precision Health Initiative (PHI)
February 1, 2023
Precision Health Initiative
Mining for Miracles, the BC mining industry’s longstanding fundraising campaign for BC Children’s Hospital Foundation, is raising $3,580,000 to support BC Children’s Hospital’s Precision Health Initiative (PHI). Since 1988, Mining for Miracles has raised over $35 million to improve health care for kids throughout BC.
This initiative represents state‐of‐the‐art medical research. It will improve BC Children’s Hospital’s ability to provide answers for children with previously undiagnosed conditions, offering new information and hope to children and families who have often been on a long diagnostic odyssey.
Through this program, Mining for Miracles can help transform the future for kids and their families through precision health research and care at BC Children’s.
What is the Precision Health Initiative?
Rare diseases are, despite the name, actually quite common. One in 25 children born in British Columbia are affected by a rare disease, and these patients occupy one in every three hospital beds at BC Children’s Hospital. Roughly half of these cases remain unsolved, despite the families spending weeks, months or even years seeing specialists and enduring endless tests. Through the PHI, BC Children’s believes it can solve up to 25 per cent more of these mystery cases, pushing the diagnostic rate from 50 per cent to 75 per cent, and giving a renewed sense of hope to families benefitting from this program.
Precision health means studying a child’s unique set of characteristics, providing deep insight into their genetic, molecular, cellular, and environmental attributes. This allows researchers and clinicians to inform and implement the best care possible for each individual child, rather than using a one‐size‐fits‐all approach.
The PHI will enable clinicians and researchers across BC Children’s Hospital to consider each child’s unique needs, combining their world‐leading expertise with the most advanced precision health tools available.
The PHI will not only change the lives of hundreds—and ultimately, thousands—of kids, it will also solidify BC Children’s as an international leader in precision health. With a focus on training and knowledge translation, the PHI will help establish the next generation of precision health experts right here in BC. New researchers will learn from today’s leaders, creating an ongoing cycle of knowledge translation and innovation as they become the experts of tomorrow.
Why is the Precision Health Initiative so important?
- Currently, many patients with rare and complex conditions go through ’diagnostic odysseys’ where they endure dozens, if not hundreds, of diagnostic tests and visit multiple specialists without finding answers—or getting the answers too late. The PHI will apply precision health technologies to increase the odds of providing quicker and more precise diagnoses, giving hope to patients and families.
- Through the PHI, clinicians will be better able to harness the power of science and the knowledge of leading research experts, locally and internationally, to help solve their mystery cases and provide guidance for their care.
How the PHI will build upon Mining for Miracles’ current legacy.
The PHI will act as a guide to ensure each child is on the correct pathway to diagnosis using precision health technologies from already established programs, including many programs that were previously supported by Mining for Miracles.
These include the BioBank, the Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) clinic, the Transplantation and Cellular Therapy (TRACE) program, Gut4Health and the Cellular and Regenerative Medicine Centre (CRMC).
An example of PHI.
More than 10 years ago, Dr. Cornelius Boerkoel, a geneticist at BC Children’s Hospital, treated a patient with symptoms of a disorder that could predispose him to certain types of cancer. At the time, genetic testing was unable to conclusively identify that the genetic change they found caused the disorder. However, when the former patient’s son began developing the same symptoms in 2020, Dr. Boerkoel turned to researchers at BC Children’s Hospital Research Institute for help.
Partnering clinical expertise with researchers harnessing precision health technology, the team was able to prove that this genetic change was responsible for the disease. “The relief on the father’s face after a decade of worrying was striking,” Dr. Boerkoel recalled. The father and son are now on a treatment and surveillance plan that is tailored to their condition, made possible by advancements in precision health.